Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018991 (hemiplegia)
 3,997 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report 22 cases of alternating hemiplegia of childhood. In addition to repeated episodes of hemiplegia lasting from a few minutes to several days, the disease was characterized by an onset before 18 months of age, the occurrence of tonic or dystonic attacks, nystagmus, dyspnea and other autonomic phenomena, and the development of cognitive impairment and of a choreoathetotic movement disorder. All the patients also had episodes of quadriplegia that occurred either when a hemiplegia was shifting from one side to the other or as an isolated manifestation. Such episodes were often severe and followed by developmental deterioration. In all children, sleep consistently relieved both weakness and associated paroxysmal phenomena, but these would reappear 10 to 20 minutes after the children awakened, during long-lasting episodes. Although six patients also had epileptic seizures, the condition seems to be distinct from epilepsy, and the clinical features and poor outcome differentiate it from migraine. Treatment with the calcium-entry blocker flunarizine was partially effective.
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PMID:Alternating hemiplegia of childhood. 849 42

Familial hemiplegic migraine (FHM) is an autosomal dominant disorder characterized by transient hemiplegia during the aura phase of a migraine attack. Nystagmus has been reported in individuals affected with this disorder, but the origin of the ocular motility findings is unknown. A three-generation family with FHM is described and clinical histories are outlined. Ocular motility evaluations were performed on 7 family members, 5 with a history of hemiplegic migraine and 2 without history of migraine. All affected family members had abnormal eye movements consistent with vestibulocerebellar dysfunction. Magnetic resonance imaging scans in affected family members revealed cerebellar vermian atrophy. DNA linkage analysis revealed a common marker in all the affected family members on chromosome 19. We suggest that the hemiplegic migraine attacks and the cerebellar degeneration are linked genetically and that the eye movements are not the ischemic sequelae of recurrent migraine. Strikingly similar ocular motility findings and cerebellar degeneration are reported in both FHM and a genetically related disorder, hereditary paroxysmal cerebellar ataxia (HPCA). The significance of these similarities is discussed along with a proposed pathophysiology for FHM.
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PMID:Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. 857 54

Clinical details are given of different types of episodic ataxia: type 1, with myokymia, and attacks which usually last a few minutes, and may occur several times a day, and treatment with acetazolamide can reduce the number of attacks; type 2, with interictal nystagmus, and attacks which last for several hours to a day or more, and treatment with acetazolamide is very effective; paroxysmal choreoathetosis with episodic ataxia, with attacks lasting for about 20 min and occurring at varying intervals; and familial hemiplegic migraine, with transient hemiplegia presenting during the aura of a migraine headache, the symptoms improving on treatment with acetazolamide. Their inheritance is of dominant type; and the gene for type 1 is mapped to chromosome 12p near to a cluster of potassium channel genes, and that for type 2 and for familial hemiplegic migraine to chromosome 19p near to calcium channel genes. The differential diagnosis from other conditions with a periodic symptomatology is discussed, especially from a number of metabolic disorders. Treatment is effective for many of these, and the treatment of the episodic ataxias with acetazolamide can sometimes have a dramatic effect. The possible role of the channelopathies in the causation of some periodic neurological disorders is considered; with the expectation that further research will improve the identification of specific diseases, and lead to more effective treatment.
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PMID:Episodic ataxia and channelopathies. 953 53

Caloric stimulation induced a transient reversal of multimodal hemispatial cognitive deficits in an 81-year-old woman with an acute left cerebral hemisphere stroke. The patient had unawareness of her right hand (asomatognosia), right-sided visual unawareness (hemineglect), aphasia and right-sided weakness (hemiplegia) prior to the stimulation. Transient improvements in impaired sensory, motor, linguistic and cognitive function developed within 30 s following application of the caloric stimulus and onset of horizontal nystagmus. The effect persisted for 3 min and ceased completely after 5 min. While several recent reports have described the capacity of caloric stimulation to transiently improve or reverse a wide range of attentional, cognitive and motor impairments, most examples are in right-hemisphere-damaged patients with long-standing brain injury. Typically, patients have been tested several months or years after the onset of the deficit. A possible mechanism for the temporary reintegration of multiple cognitive functions in this patient is discussed.
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PMID:Does vestibular stimulation activate thalamocortical mechanisms that reintegrate impaired cortical regions? 1009 98

A 60-year-old hypertensive woman had a pontine hemorrhage that caused slight right hemiplegia, deep sensory disturbance on her right side and dysarthria. Three months after the stroke, she was transferred to our hospital for rehabilitation. Approximately 6 months later, she gradually began to complain of the visual oscillation. Continual, unceasing conjugate vertical/rotatory eye movements were observed. Fixation was momentary at best because of an inability to dampen the spontaneous eye movements. Electrooculography (EOG) showed bilateral vertical/rotatory sinusoidal eye movements of 2.5 Hz frequency and 10- to 35-degree amplitude. Both vertical and horizontal optokinetic nystagmus were absent. Caloric stimulation did not evoke any responses bilaterally. There were no rhythmical movements at similar frequencies in other parts of the body such as palatal myoclonus. MRI revealed not only hematoma mainly at the dorsal pontine tegmentum but also hypertrophy of the inferior olive nucleus, suggesting disruption of the central tegmental tract. Lesions of this tract may be one cause of pendular nystagmus. Several drug therapies were investigated for the nystagmus. There was no response to baclofen 15 mg. Trihexyphenidyl 4 mg was discontinued because of drug-induced hallucinations. Tiapride 600 mg and phenobarbital 90 mg were each slightly effective in reducing both frequency and amplitude of nystagmus. Treatment with clonazepam 1 mg resulted in the striking disappearance of nystagmus. She was aware of this and no longer experienced oscillopsia. Despite the visual benefit, however, the patient did not wish to continue this drug because of drowsiness and muscle relaxation. The potential long-term therapeutic application of clonazepam should be further investigated. To our knowledge, there have been no reports of successful treatment in acquired pendular nystagmus with clonazepam. Therefore, based on this favorable experience, it is suggested that clonazepam should be added to the list of potential therapies for pendular nystagmus.
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PMID:[Acquired pendular nystagmus after pontine hemorrhage]. 1065 2

The aim of this study was to evaluate the incidence of visual function abnormalities in children with infantile hemiplegia, and the relation between visual abnormalities and type of lesion, as shown by brain MRI. Visual function was tested (grating acuity, visual field size, binocular optokinetic nystagmus [OKN], and ocular movements) in a group of 47 children with congenital or early acquired hemiplegic cerebral palsy (mean age 25 months, range 8 to 52 months). The cohort was subdivided into four groups according to MRI findings: brain malformations (n=5), abnormalities of the periventricular white matter (n=20), cortical-subcortical lesions (n=16), and non-progressive postnatal brain injuries (n=6). More than 80% of the children showed abnormal results in at least one visual test: acuity was the least impaired function, while visual field and OKN were abnormal in more than 50% of the cohort. No specific correlation could be identified between the type and timing of the lesions and visual function. Unlike adults with stroke, visual field defects were not always related to contralateral damage in the optic radiations or in the visual cortex. These results indicate that visual abnormalities are common in children with hemiplegia, and that they cannot always be predicted by MRI. All children with hemiplegia need a detailed assessment of visual function.
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PMID:Visual function in children with hemiplegia in the first years of life. 1136 85

INTRODUCTION. This paper review the state of the art of alternating hemiplegia of childhood. This entity is a rare neurologic disorder of infancy characterize by transient hemiplegic spells shifting from one side to another, and occasionally affecting to both hemispheres at the same time. Usually start before 18 months, many cases exhibit neonatal symptoms related with the disorder. Early symptomatology include abnormal ocular movements, mainly nystagmus, and tonic or dystonic attacks generally beginning before 6 months of age. These symptoms are frequently misdiagnosis as epilepsy. Typical hemiplegic fits which disappeared when infant felt asleep appeared by 12 months of age. Diagnosis is on clinical basis after excluding any other causes of fluctuating and transitory hemiplegic attacks. Complementary investigations, such as electroencephalograms, TAC, MRI, angiographic MRI, CFS are strictly normal. Cerebral SPECT show controversial abnormalities in some studies. We perform SPECT study in a alert 12 months old girl during an interictal period resulting in a non significant asymmetry, with lesser perfusion in left frontal basal and anterior temporal gyrus. Nevertheless, we observed an striking hyperperfusion in middle occipital area. Treatment is symptomatic with flunarizine. Our patient experience a dramatic decrease in frequency, duration and severity of hemiplegic attacks.
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PMID:[Alternating hemiplegia in young babies]. 1198 11

We herein report the findings of a 2-year-6-month-old boy, who had been experiencing monocular pendular nystagmus, strabismus, and episodic eye deviation nystagmus, intractable dystonia and apneic attack which all began when he was 2 days of age. He underwent a complete blood count test, blood chemistry test, analysis of amino acids in the blood and urine, analysis of pyruvate/lactate in blood and cerebrospinal fluid, head computed tomography and magnetic resonance imaging and no abnormal results were identified. His attacks were resistant to multiple antiepileptic and dopaminergic drugs. He showed transient left and/or right hemiplegia after nystagmus, dystonia and/or apneic attacks at 8-months of age with retardation in intelligence. We diagnosed him to have alternating hemiplegia of childhood (AHC). We were unsure how to deal with his attacks after he was discharged from the hospital, however, resuscitation with the ambu bag by his mother at home and the intravenous infusion of diazepam or thiamylal at the hospital together was proven to be an effective method for treating his severe apneic attacks. The effect of diazepam and amantadine on these attacks was transient, however, the administration of flunarizine with amantadine resulted in an improvement in his attacks. We therefore consider the administration of flunarizine to be essential for the effective treatment of AHC in this case.
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PMID:[A boy with nystagmus, refractory dystonia and apneic attack due to alternating hemiplegia of childhood]. 1763 86

Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms according to the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM). The prevalence of HM is one in 10,000 with FHM and SHM being equally frequent. Typical HM attacks include a motor weakness that is always associated with other aura symptoms, the most frequent being sensory, visual and speech disorders. In addition, basilar-type symptoms occur in up to 70% of the patients. Severe attacks may occur in FHM as well as in SHM with prolonged hemiplegia, confusion, coma, fever and seizures. The clinical spectrum also includes permanent cerebellar signs (nystagmus, ataxia, dysarthria) and less frequently various types of seizures and intellectual deficiency. FHM is the only variety of the autosomal dominant migraine and all three know genes encode ion-transporters. A genetic diagnosis is now possible by screening the three known genes involved in FHM (CACNA1A, ATP1A2 and SCNA1). Prognosis is usually good. Treatment is similar to approaches used in other varieties of migraine with aura, excepted for triptans that are contraindicated in MHF/MHS. Based on new pathophysiological insight, preventive treatments by various antiepileptic agents seem promising.
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PMID:[Familial and sporadic hemiplegic migraine]. 1840 71

A female patient presented with horizontal gaze nystagmus, mild cerebellar ataxia, recurrent headache and hemiplegia since childhood with cerebellar atrophy on magnetic resonance imaging. Genetic analysis revealed a CACNA1A gene mutation, leading to a diagnosis of familial hemiplegic migraine (FHM1). FHM is very rare, but should be considered as a differential diagnosis for childhood cerebellar symptoms and/or cerebellar atrophy. To avoid missing FHM1, a detailed clinical history including headache or hemiplegia is essential. Oral acetazolamide during the aura phase, comprising mild headache and abnormal leg sensation, relieved these symptoms in this patient, suggesting that acetazolamide could represent a first line of treatment.
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PMID:Genetic diagnosis and acetazolamide treatment of familial hemiplegic migraine. 2054 93


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